Author: ahalladay@autismsciencefoundation.org

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What is the evidence that autism is genetic?

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This week we talk to Drs. Steve Scherer, Lisa Bradley and Graham Collingridge who recently published research that shows the gene PTCHD1-AS influences social functioning in humans and mice, without influencing intellectual deficits. This is the newest data that shows a single gene can control social communication and not some of the other comorbid features of ASD. They review the data around genetic influences in autism, why the knowledge of the role of genes in autism has exploded in the past decade, evidence that specific genes lead to an autism diagnosis, and more specifically, what this gene does in the brain and why it took so long to identify it.

Here is the article: open access! https://www.nature.com/articles/s41586-026-10515-6

Need a genetic test? Here are some resources:

www.startgenetic.com

Genetic Testing
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Calculating a gene x environment interaction in autism

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Traditionally, scientists have been able to calculate the role of genes in autism, or the environment in autism. However, understanding the role of genes together with the environment, or the effects of the environment with a genetic background, has been very difficult. This is especially true with polygenic genetic risk factors, which is not a single gene but a combination of multiple genetic influences. Different environmental factors might be good candidates for testing because some of them are more accurately measured than others.

This week, we talk to Drs. Nilanjan Chatterjee and Christine Ladd Acosta both from Johns Hopkins University, who have tested and validated a new method to calculate the risk of not just genetics, or the environment but the two working together. They describe some of the factors they studied and why, and how this model can be used for further research questions.

https://pubmed.ncbi.nlm.nih.gov/42230772

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Mysteries of Motor Abilities in Autism

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This week’s podcast features beloved UCLA child neurologist Dr. Rujuta Wilson who helps families with autism and other neurological conditions, both with and without a known genetic condition. We discuss the overlap of motor disability with autism spectrum disorder, what we know, what we need to know and what research families can participate in to help solve these questions. Dr. Wilson also explains some common terms in motor abilities or disabilities and how recreational activities can enhance evidence-based therapies to improve motor function, and of course give joy to those participating.

The PROMISE Study_approvedDownload
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What can understanding autistic transgender individuals tell us about sex differences in ASD?

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Happy Pride! In honor of June, this week’s podcast focuses on the specific needs of those who are transgender or sexually diverse and also autistic. What is the prevalence of autism in those who are transgender and what is the prevalence of being transgender in those who are autistic? New research has emerged which shows that mental and physical health problems are more prevalent in those with an autism diagnosis and transgender compared to those who are not autistic and transgender. What can we learn about sex differences in diagnoses of males and females through studying those who are also transgender? Also, Laura Graham Holmes who authored one of the studies comments on the importance of her research.

Click to access 10.1177_07067437261442432.pdf

https://onlinelibrary.wiley.com/doi/10.1002/aur.70235

https://pubmed.ncbi.nlm.nih.gov/41614651

https://www.nature.com/articles/s41467-020-17794-1

https://pubmed.ncbi.nlm.nih.gov/41533668

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Autism and disorders of aging

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We have talked already about the link between autism and dementia, however a lesser known association is the one between autism and another disorder of aging: Parkinson’s Disease. A recent presentation at INSAR revealed what is known about the relationship, why they are related, what causes the association and what people with autism can do to possibly mitigate the onset of dementia and Parkinson’s Disease. Thank you to Dr. Blair Braden and Samantha Harker and Manuela Velez Galindo from the Autism and Brain Aging Lab at Arizona State University (@autismbrainaginglab @asuresearch) for joining this podcast and explaining the findings so far and what they mean for individuals and families with autism.

https://pubmed.ncbi.nlm.nih.gov/25911091

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Antidepressants do not cause autism

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In all the recent hype on the “overprescribing” of psychiatric medications, there is a circulating rumor antidepressant use in the mother during pregnancy has could be linked to an autism diagnosis in the child. Thankfully, there is research on this topic, and the results are clear: antidepressant exposure during pregnancy does not cause autism in children. Where would this idea come from? Early studies did show a weak link, but the association arises because there is a genetic link between having a psychiatric disorder like anxiety and stress and autism. Don’t stop taking your meds unless you discuss it with your doctor. References below:

https://pubmed.ncbi.nlm.nih.gov/42134364

https://pubmed.ncbi.nlm.nih.gov/42088678/

https://pubmed.ncbi.nlm.nih.gov/42168841/

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Lost in translation: SPARK NS helps scientists with a good idea turn it into therapies for families

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SPARK – neuroscience, known to autism researchers as the other “SPARK”, is a project based out of Stanford University. This project does not collect genetics on hundreds of thousands of people, instead, they that provide funding, advice, support, mentorship, coaching and project management to scientists who have some evidence of a target in the brain relevant to autism. They help these scientists turn it into a potential drug or therapeutic that can help families. This is known as “translational research” and part of the “Valley of Death” where so many good drugs fail. This is a high-risk/high-reward endeavor. They are currently focused on therapeutics that target the functioning of the brain in autism and Parkinson’s Disease. Today’s guest is Dr. Opher Kornfeld, managing director of SPARK NS and neuroscientist. He explains how SPARK NS started, what they do, and how they have been successful helping scientists develop an idea into a potential product.

https://sparkns.org

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Somebody’s got to do it….it should someone from the autism community.

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In November, there will be many Congressional seats open. Wouldn’t it be great if it was someone with firsthand knowledge of the experiences of autism families and understood what they were facing? In NJ, that is happening. Dr. Samuel Wang, autism researcher and autism sibling, is running for Congress. Today’s podcast interviews Dr. Wang, why he decided to run, what he will do when elected and what he hopes to accomplish as a Congressmember. You can read more about him at www.samfornj.org

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Why is paramecetol safety so perplexing?

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Another study on acetaminophen (known as paramecetol in Denmark) on probability of having a child with autism, this one with over 1.5 million pregnant women, 31k who were exposed to acetaminophen. The HHS Secretary is calling it “garbage in and garbage out” because it showed no link, but in fact, it is a strong study that examined multiple confounding variables and addressed questions that had been unanswered previously. This podcast is short and so is the message: Tylenol, also known as acetaminophen or paramecetol, taken during pregnancy, does not cause autism. Period.

https://pubmed.ncbi.nlm.nih.gov/41973453

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The Mitochondria in a Minute

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The word “mitochondrial deficits” gets thrown around a lot as a cause of autism, but what does this really mean? This week we interview Dr. Carisa Sirois from the University of Wisconsin, who recently published a review of how the mitochondria are involved in neurodevelopmental disorders. The ways mitochondria are involved in ASD are not simple, there are many different ways in which they affect cellular function, including genetic variations leading to impaired functioning, which then leads to brain level changes. We also discuss how the mitochondria are involved in a process called oxidative stress, which has been informally proposed to be a core process in autism.

Download the publication here:

s41583-026-01031-7Download